Mitochondrial Diseases

"Mitochondrial Diseases" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.

Descriptor ID	D028361
MeSH Number(s)	C18.452.660
Concept/Terms	Mitochondrial Diseases Mitochondrial Diseases Disease, Mitochondrial Mitochondrial Disease Mitochondrial Disorders Disorder, Mitochondrial Disorders, Mitochondrial Mitochondrial Disorder Oxidative Phosphorylation Deficiencies Oxidative Phosphorylation Deficiencies Deficiencies, Oxidative Phosphorylation Deficiency, Oxidative Phosphorylation Oxidative Phosphorylation Deficiency Phosphorylation Deficiencies, Oxidative Phosphorylation Deficiency, Oxidative Respiratory Chain Deficiencies, Mitochondrial Respiratory Chain Deficiencies, Mitochondrial Deficiencies, Respiratory Chain Deficiency, Respiratory Chain Respiratory Chain Deficiency Mitochondrial Respiratory Chain Deficiencies Electron Transport Chain Deficiencies, Mitochondrial Electron Transport Chain Deficiencies, Mitochondrial Mitochondrial Electron Transport Chain Deficiencies

Below are MeSH descriptors whose meaning is more general than "Mitochondrial Diseases".

Diseases [C]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Mitochondrial Diseases [C18.452.660]

Below are MeSH descriptors whose meaning is more specific than "Mitochondrial Diseases".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Mitochondrial Diseases" by people in this website by year, and whether "Mitochondrial Diseases" was a major or minor topic of these publications.

Bar chart showing 17 publications over 14 distinct years, with a maximum of 2 publications in 2017 and 2019 and 2021

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2001	1	0	1
2002	0	1	1
2004	1	0	1
2005	1	0	1
2010	1	0	1
2012	1	0	1
2015	1	0	1
2017	1	1	2
2018	1	0	1
2019	1	1	2
2020	1	0	1
2021	1	1	2
2024	1	0	1
2025	1	0	1

Below are the most recent publications written about "Mitochondrial Diseases" by people in Profiles.

Roesch S, O'Sullivan A, Tschani S, Baghdasaryan A, Balasubramaniam S, Baric I, de Boer L, Gr?nert SC, Guzek A, Janssen M, Krumina Z, Koenig MK, Lewkowitz AM, Mochel F, Naldi AM, Plecko B, ?zt?rk K, O'Grady L, Riordan G, Rymen D, Sahai I, Santer R, Schiff M, Stettner GM, Tsiakas K, U?ar SK, Uzun ??, Weigel C, Witters P, Merkevicius K, Mayr JA, Wortmann SB, Iwanicka-Pronicka K. Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study. Mol Genet Metab. 2025 Sep-Oct; 146(1-2):109193.

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Ling Q. A "one size fits all" gene therapy for neurological disorders with mitochondrial dysfunction. Mol Ther. 2024 Jul 03; 32(7):2045-2046.

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Hikmat O, Isohanni P, Keshavan N, Ferla MP, Fassone E, Abbott MA, Bellusci M, Darin N, Dimmock D, Ghezzi D, Houlden H, Invernizzi F, Kamarus Jaman NB, Kurian MA, Morava E, Naess K, Ortigoza-Escobar JD, Parikh S, Pennisi A, Barcia G, Tyllesk?r KB, Brackman D, Wortmann SB, Taylor JC, Bindoff LA, Fellman V, Rahman S. Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. Ann Clin Transl Neurol. 2021 11; 8(11):2155-2165.

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Maung MT, Carlson A, Olea-Flores M, Elkhadragy L, Schachtschneider KM, Navarro-Tito N, Padilla-Benavides T. The molecular and cellular basis of copper dysregulation and its relationship with human pathologies. FASEB J. 2021 09; 35(9):e21810.

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Liu H, Zhang X, Xiao J, Song M, Cao Y, Xiao H, Liu X. Astaxanthin attenuates d-galactose-induced brain aging in rats by ameliorating oxidative stress, mitochondrial dysfunction, and regulating metabolic markers. Food Funct. 2020 May 01; 11(5):4103-4113.

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Naresh NU, Haynes CM. Signaling and Regulation of the Mitochondrial Unfolded Protein Response. Cold Spring Harb Perspect Biol. 2019 06 03; 11(6).

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Zieger M, Keeler AM, Flotte TR, ElMallah MK. AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2019 09; 42(5):870-877.

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Marelli C, Salsano E, Politi LS, Labauge P. Spinal cord involvement in adult-onset metabolic and genetic diseases. J Neurol Neurosurg Psychiatry. 2019 02; 90(2):211-218.

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Shpilka T, Haynes CM. The mitochondrial UPR: mechanisms, physiological functions and implications in ageing. Nat Rev Mol Cell Biol. 2018 02; 19(2):109-120.

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Quintos JB, Hodax JK, Gonzales-Ellis BA, Phornphutkul C, Wajnrajch MP, Boney CM. Response to Growth hormone deficiency in mitochondrial disorders. J Pediatr Endocrinol Metab. 2017 04 01; 30(4):483-484.

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